ESPE Abstracts

Background: Vitamin D-dependent rickets type 3 (VDDR3) is a rare autosomal dominant inheritance disease, which is caused by the gain-of-function mutation in CYP3A4 (c.902T>C p.Ile301Thr).Case Presentation: We report the case of a 32-month-old boy presented with discomfort of both knee-joints, poor mobility, and gait abnormality when running. Laboratory examinations revealed low concentrations of serum calcium, phospho...

Objective: Asprosin, a novel peptide that has recently discovered as an important regulatory adipokine, is relevant to obesity in animals and adult humans. Little is known about its roles in children. The aim of the current study was to determine the potential role of asprosin and explore its relationship to various obesity-related markers in children with obesity.Methods: A cross-sectional study was conducted among 119 ...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations in the Forkhead/winged helix transcription factor (FOXP3) gene and is a rare disorder that increasingly has gained attention as a model of genetic autoimmunity. We report two Chinese families with IPEX and the sequencing of the FOXP3 gene.Methods: Two unrelated Chinese cases with IPEX were investigated. In case 1, the proband was a 4 month-y...

Background: Fulminant type 1 diabetes (FT1D) is presented as a severe diabetes subtype among adults, however, we have no idea whether it’s worth being taken seriously among children and adolescents.Objective and hypotheses: We aim to clarify the clinical significance of the subtype. It’s supposed that we may needn’t pay special attention to the subtype.Method: Case–control study design. Data from hospitalized al...

Objective: The aim here was to describe the characteristics of obese children and adolescents and to determine how the prevalence of comorbidities differed over 10 years in China.Methods: Obese children and adolescents were enrolled from Department of Endocrinology, Children’s Hospital of Zhejiang University School of Medicine in Hangzhou (Zhejiang Province, China). Eligibility was defined by a body mass index ...

The condition of being small for gestational age (SGA) poses significant risks to both infant development delay and chronic non-communicable diseases in adultood, especially cardiovascular diseases. Despite the known association between SGA and endothelial dysfunction, the precise pathogenic genes and underlying mechanisms driving this pathology have remained elusive. In this study, we conducted a comprehensive evaluation of endothelial dysfunction in SGA by their increased an...

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disease characterized by disorders of fatty acid, branched-chain amino acid and energy metabolism. It can be manifested as hypoketo hypoglycemia, metabolic acidosis, muscle weakness, cardiomyopathy and so on. In terms of treatment, patients with MADD need to rely on a high-carbohydrate, low-fat and low-protein diet to improve energy metabolism disorders. At present, there are no clinical reports of MAD...

Objective: Growth hormone deficiency (GH) is one of the most common complications in postoperative survivors of craniopharyngioma (CP), which is closely related to short stature. recombinant human growth hormone (rhGH) is often used to correct short stature in survivors after CP in children, but its safety is still controversial on the one hand, and its effect on glucose and lipid metabolism is unclear on the other hand. The purpose of this study is to monitor...

Objective: To investigate the feasibility and rationality of letrozole (Lz) as treatment for severely advanced bone age (BA) in children with 21-Hydroxylase Deficiency (21-OHD).Methods: This was a retrospective self-control study to test the possibility of Lz that a decrease in the rate of bone maturation and an increase in predicted adult height (PAH).Results: The improvement of h...

Background: 1q21.1 microdeletion syndrome is a genetic disorder characterized by a spectrum of complex clinical manifestations, including neurodevelopmental abnormalities, short stature, and cardiac anomalies. However, the phenotypic heterogeneity of this condition poses a diagnostic challenge. We report a unique case of a patient who presented solely with short stature, which was later determined not to be caused by a 1q21.1 microdeletion after comprehensive ...